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1
Riley, Edward P., and Christie L. McGee. "Fetal Alcohol Spectrum Disorders: An Overview with Emphasis on Changes in Brain and Behavior." Experimental Biology and Medicine 230, no. 6 (June 2005): 357–65. http://dx.doi.org/10.1177/15353702-0323006-03.
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Fetal alcohol spectrum disorders constitute a major public health problem. This article presents an overview of important issues that surround these disorders and emphasizes the structural and neurobehavioral consequences associated with prenatal exposure to alcohol. Diagnostic criteria are discussed, and possible moderating factors for the range of outcomes are mentioned. In addition, the prevalence of fetal alcohol spectrum disorders is described, and estimates of the financial impact of these disorders are given. Heavy prenatal alcohol exposure can severely affect the physical and neurobehavioral development of a child. Autopsy and brain imaging studies indicate reductions and abnormalities in overall brain size and shape, specifically in structures such as the cerebellum, basal ganglia, and corpus callosum. A wide range of neuropsychological deficits have been found in children prenatally exposed to alcohol, including deficits in visuospatial functioning, verbal and nonverbal learning, attention, and executive functioning. These children also exhibit a variety of behavioral problems that can further affect their daily functioning. Children exposed to alcohol prenatally, with and without the physical features of fetal alcohol syndrome, display qualitatively similar deficits. Determining the behavioral phenotypes that result from heavy prenatal alcohol exposure is critical, because the identification of these children is crucial for early interventions. In addition, knowing which brain areas are involved might enable the development of better intervention strategies. However, intervention needs to go beyond the affected individual to prevent future cases. As evidenced by the staggering financial impact these disorders have on society, prevention efforts need to be aimed at high-risk groups, and this issue needs to be made a high priority in terms of public health.
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Norris, Courtney L., and Alphonso Smith. "A-27 A Pediatric Case Study of Neurodevelopmental Disorder Associated with Complete Agenesis of the Corpus Callosum." Archives of Clinical Neuropsychology 36, no. 6 (August 30, 2021): 1068. http://dx.doi.org/10.1093/arclin/acab062.45.
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Abstract Objective The corpus callosum is a major white matter pathway of the brain that coordinates the transfer of information between both cerebral hemispheres. Children with complete agenesis of the corpus callosum (ACC) are at increased risk for neurodevelopmental disorders, epilepsy, and genetic abnormalities. Method This case study presents the neuropsychological profile of a 6-year-old girl in the 1st grade who was born with complete ACC and presented with a history of attention problems and behavioral-emotional difficulties. Results Neuropsychological testing revealed mild to severe deficits in attention, executive functioning, and self-regulation in the context of average intellectual functioning and broadly average to above-average academic achievement. Conclusions School recommendations included establishing a 504 plan and weekly counseling sessions with the school social worker in order to provide accommodations to support the child’s attention difficulties in the academic setting. Recommendations for genetic testing and ongoing monitoring by the patient’s neurologist were suggested given the higher rates of genetic abnormalities and seizures in children with ACC as these conditions can adversely impact neurodevelopmental outcomes. Medication management, as well as private behavior therapy with a parent-training component, were recommended for interventions to address the child’s deficits with attention and behavioral regulation. This case study demonstrates the need for prompt neuropsychological evaluation for children with ACC in order to more efficiently facilitate access to targeted assessments and treatments that can lead to improved outcomes.
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HANNAY, H. JULIA. "Functioning of the corpus callosum in children with early hydrocephalus." Journal of the International Neuropsychological Society 6, no. 3 (March 2000): 351–61. http://dx.doi.org/10.1017/s1355617700633106.
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The development and organization of the corpus callosum is described as well as the relationship between the timing of insults and the type of partial agenesis of the corpus callosum are discussed. Neuropathology and callosal damage associated with spina bifida meningomyelocele, aqueductal stenosis, and prematurity–IVH are outlined. Relationships between corpus callosum/whole brain ratios and cognitive functioning as well as interhemispheric transfer in children with these disorders are outlined. Shortcomings of current research and future directions are suggested. (JINS, 2000, 6, 351–361.)
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Iliadou, Vassiliki, Doris-Eva Bamiou, Stergios Kaprinis, Dimitrios Kandylis, Nikolaos Vlaikidis, Kalliopi Apalla, Anestis Psifidis, George Psillas, and George St Kaprinis. "Auditory Processing Disorder And Brain Pathology In A Preterm Child With Learning Disabilities." Journal of the American Academy of Audiology 19, no. 07 (July 2008): 557–63. http://dx.doi.org/10.3766/jaaa.19.7.5.
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Background: Auditory processing disorders involve deficits in the processing of information in the auditory domain that are not due to higher order language, cognitive or other related factors. Purpose: To evaluate the possibility of structural brain abnormalities in preterm children manifesting as auditory processing disorders. Research Design : A case report of a young girl, preterm at birth, with language difficulties, learning problems at school, and additional listening problems. Results: A diagnosis of a central auditory processing disorder was made on the basis of severe deficits in three nonspeech temporal tests (the frequency and duration pattern and the random gap detection tests). Her brain MRI revealed large porencephalic cysts and thinning of the corpus callosum. Conclusions: The observed auditory deficits would be compatible with a pressure effect of the cysts at a brainstem or higher level for the random gap detection test, and with the thinning of the corpus callosum for the pattern tests, the latter requiring interhemispheric transfer of information. The case highlights that preterm children with learning difficulties may suffer from an auditory processing disorder, in the presence of structural brain abnormalities that are due to birth and neonatal complications.
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ROEBUCK-SPENCER, TRESA M., SARAH N. MATTSON, SARAH DEBOARD MARION, WARREN S. BROWN, and EDWARD P. RILEY. "Bimanual coordination in alcohol-exposed children: Role of the corpus callosum." Journal of the International Neuropsychological Society 10, no. 4 (July 2004): 536–48. http://dx.doi.org/10.1017/s1355617704104116.
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The corpus callosum (CC) is one of several brain structures affected in children prenatally exposed to alcohol. This structure plays a major role in coordinating motor activity from opposite sides of the body, and deficits in bimanual coordination have been documented in individuals with agenesis of or damage to the CC, particularly when the task is performed without visual feedback. The Bimanual Coordination Test was used to assess speed and accuracy on a task where both hands must coordinate to guide a cursor through angled pathways providing measures of interhemispheric interaction or the ability of the two hemispheres to coordinate activity via the corpus callosum. Twenty-one children with fetal alcohol spectrum disorders (FASD) and 17 non-exposed control children (CON), matched closely in age, sex, and ethnicity were tested. For trials with visual feedback (WV), children with FASD were slower than CON children but were equally accurate. Although statistically significant group differences were not observed on most trials completed without visual feedback (WOV), accuracy of the FASD group on WOV trials was highly variable. Group differences in accuracy on WOV angles approached significance after accounting for performance on the WV angles, and children with FASD were significantly less accurate on an individual angle believed to be particularly sensitive to interhemispheric interaction. These results indicate that children with FASD are slower than CON children but equally accurate on basic visuomotor tasks. However, as task complexity and reliance on interhemispheric interaction increases, children with FASD demonstrate variable and inaccurate performance. Preliminary analyses suggest that inaccurate performance on the bimanual coordination task, and presumably impaired callosal functioning, may be related to the attention and problem solving impairments commonly reported in children with FASD. (JINS, 2004, 10, 536–548.)
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De Bellis, Michael D., Stephen R. Hooper, Steven D. Chen, James M. Provenzale, Brian D. Boyd, Christopher E. Glessner, James R. MacFall, Martha E. Payne, Robert Rybczynski, and Donald P. Woolley. "Posterior structural brain volumes differ in maltreated youth with and without chronic posttraumatic stress disorder." Development and Psychopathology 27, no. 4pt2 (November 2015): 1555–76. http://dx.doi.org/10.1017/s0954579415000942.
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AbstractMagnetic resonance imaging studies of maltreated children with posttraumatic stress disorder (PTSD) suggest that maltreatment-related PTSD is associated with adverse brain development. Maltreated youth resilient to chronic PTSD were not previously investigated and may elucidate neuromechanisms of the stress diathesis that leads to resilience to chronic PTSD. In this cross-sectional study, anatomical volumetric and corpus callosum diffusion tensor imaging measures were examined using magnetic resonance imaging in maltreated youth with chronic PTSD (N = 38), without PTSD (N = 35), and nonmaltreated participants (n = 59). Groups were sociodemographically similar. Participants underwent assessments for strict inclusion/exclusion criteria and psychopathology. Maltreated youth with PTSD were psychobiologically different from maltreated youth without PTSD and nonmaltreated controls. Maltreated youth with PTSD had smaller posterior cerebral and cerebellar gray matter volumes than did maltreated youth without PTSD and nonmaltreated participants. Cerebral and cerebellar gray matter volumes inversely correlated with PTSD symptoms. Posterior corpus callosum microstructure in pediatric maltreatment-related PTSD differed compared to maltreated youth without PTSD and controls. The group differences remained significant when controlling for psychopathology, numbers of Axis I disorders, and trauma load. Alterations of these posterior brain structures may result from a shared trauma-related mechanism or an inherent vulnerability that mediates the pathway from chronic PTSD to comorbidity.
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Donald, Kirsten Ann, Emma Eastman, Fleur Margaret Howells, Colleen Adnams, Edward Patrick Riley, Roger Paul Woods, Katherine Louise Narr, and Dan Joseph Stein. "Neuroimaging effects of prenatal alcohol exposure on the developing human brain: a magnetic resonance imaging review." Acta Neuropsychiatrica 27, no. 5 (March 17, 2015): 251–69. http://dx.doi.org/10.1017/neu.2015.12.
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ObjectiveThis paper reviews the magnetic resonance imaging (MRI) literature on the effects of prenatal alcohol exposure on the developing human brain.MethodA literature search was conducted through the following databases: PubMed, PsycINFO and Google Scholar. Combinations of the following search terms and keywords were used to identify relevant studies: ‘alcohol’, ‘fetal alcohol spectrum disorders’, ‘fetal alcohol syndrome’, ‘FAS’, ‘FASD’, ‘MRI’, ‘DTI’, ‘MRS’, ‘neuroimaging’, ‘children’ and ‘infants’.ResultsA total of 64 relevant articles were identified across all modalities. Overall, studies reported smaller total brain volume as well as smaller volume of both the white and grey matter in specific cortical regions. The most consistently reported structural MRI findings were alterations in the shape and volume of the corpus callosum, as well as smaller volume in the basal ganglia and hippocampi. The most consistent finding from diffusion tensor imaging studies was lower fractional anisotropy in the corpus callosum. Proton magnetic resonance spectroscopy studies are few to date, but showed altered neurometabolic profiles in the frontal and parietal cortex, thalamus and dentate nuclei. Resting-state functional MRI studies reported reduced functional connectivity between cortical and deep grey matter structures.DiscussionThere is a critical gap in the literature of MRI studies in alcohol-exposed children under 5 years of age across all MRI modalities. The dynamic nature of brain maturation and appreciation of the effects of alcohol exposure on the developing trajectory of the structural and functional network argue for the prioritisation of studies that include a longitudinal approach to understanding this spectrum of effects and potential therapeutic time points.
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Munarriz, Pablo M., Beatriz Pascual, Ana M. Castaño-Leon, Ignacio García-Recuero, Marta Redondo, Ana Martínez de Aragón, and Ana Romance. "Apert syndrome: Cranial procedures and brain malformations in a series of patients." Surgical Neurology International 11 (October 29, 2020): 361. http://dx.doi.org/10.25259/sni_413_2020.
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Background: Apert syndrome is one of the most severe craniofacial disorders. This study aims to describe the craniofacial surgeries and central nervous system malformations of a cohort of children with Apert syndrome treated in the past 20 years and to compare these data with previously published data. Methods: Retrospective analysis of a series of patients with Apert syndrome treated between 1999 and 2019 in our hospital. Information was analyzed regarding craniofacial procedures, hydrocephalus and presence of shunts, Chiari malformation Type 1, and other brain malformations such as corpus callosum and septum pellucidum anomalies. Results: Thirty-seven patients were studied. Ventriculoperitoneal shunt prevalence was 24.3%, and 8.1% of patients required decompressive surgery for Chiari malformation. All of them needed at least one cranial vault remodeling procedure. The median age for this procedure was 8 months. In 69.7% of patients, the first cranial vault intervention was performed in the fronto-orbital region. In 36.4% of patients, a midface advancement had been performed at the time of this review, although this proportion was very dependent on the follow-up period and the age of the patients. The median age for the midface advancement procedure was 5.25 years. Anomalies of the corpus callosum and the septum pellucidum were reported in 43.2% and 59.5% of patients, respectively. Conclusion: Apert syndrome is a type of syndromic craniosynostosis, and patients usually require one or more cranial and facial surgeries. In comparison with other syndromic craniosynostosis types, Apert syndrome less frequently requires a VP shunt or treatment for a Chiari malformation.
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Guerrini, Renzo, and Tiziana Filippi. "Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis." Journal of Child Neurology 19, no. 3 (March 2004): 287–99. http://dx.doi.org/10.1177/08830738040190030401.
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Several malformation syndromes with abnormal cortical development have been recognized. Specific causative gene defects and characteristic electroclinical patterns have been identified for some. X-linked periventricular nodular heterotopia is mainly seen in female patients and is often associated with focal epilepsy. FLN1 mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of periventricular nodular heterotopia owing to ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay, and early-onset seizures. Lissencephaly-pachygyria and subcortical band heterotopia represent a malformative spectrum resulting from mutations of either the LIS1 or the DCX ( XLIS) gene. LIS1 mutations cause a more severe malformation posteriorly. Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior subcortical band heterotopia owing to mosaic mutations of LIS1. DCX mutations usually cause anteriorly predominant lissencephaly in male patients and subcortical band heterotopia in female patients. Mutations of the coding region of DCX were found in all reported pedigrees and in about 50% of sporadic female patients with subcortical band heterotopia. Mutations of XLIS have also been found in male patients with anterior subcortical band heterotopia and in female patients with normal brain magnetic resonance imaging. The thickness of the band and the severity of pachygyria correlate with the likelihood of developing severe epilepsy. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin ( RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. Affected boys have severe delay and infantile spasms with suppression-burst electroencephalograms. Early death is frequent. Carrier female patients can have isolated corpus callosum agenesis. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene have not been confirmed. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy. Recessive bilateral frontoparietal polymicrogyria has been associated with mutations of the GPR56 gene. ( J Child Neurol 2005;20:287—299).
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Mesquita, Maria dos Anjos, and Conceição Aparecida de Mattos Segre. "Congenital malformations in newborns of alcoholic mothers." Einstein (São Paulo) 8, no. 4 (December 2010): 461–66. http://dx.doi.org/10.1590/s1679-45082010ao1880.
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ABSTRACT Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births), 6 with congenital defects related to alcohol (3.0/1,000 live births), and 67 with developmental disorders related to alcohol (34.1/1,000 live births). The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.
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Wong, Lee-Chin, Shekhar Singh, Hsin-Pei Wang, Chia-Jui Hsu, Su-Ching Hu, and Wang-Tso Lee. "FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms." International Journal of Molecular Sciences 20, no. 17 (August 26, 2019): 4176. http://dx.doi.org/10.3390/ijms20174176.
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Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes identified in FOXG1-related encephalopathy, duplications and deletions/intragenic mutations. In children with deletions or intragenic mutations of FOXG1, the recognized clinical features include microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation. In contrast, children with duplications of FOXG1 are typically normocephalic and have normal brain magnetic resonance imaging. They also have different clinical characteristics in terms of epilepsy, movement disorders, and neurodevelopment compared with children with deletions or intragenic mutations. FOXG1 is a transcriptional factor. It is expressed mainly in the telencephalon and plays a pleiotropic role in the development of the brain. It is a key player in development and territorial specification of the anterior brain. In addition, it maintains the expansion of the neural proliferating pool, and also regulates the pace of neocortical neuronogenic progression. It also facilitates cortical layer and corpus callosum formation. Furthermore, it promotes dendrite elongation and maintains neural plasticity, including dendritic arborization and spine densities in mature neurons. In this review, we summarize the clinical features, molecular genetics, and possible pathogenesis of FOXG1-related syndrome.
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Milovanova, O. A., O. A. Коmissarovа, T. Yu Tarakanova, S. V. Bugry, and G. G. Avakyan. "Epileptic manifestations, cognitive impairment and autism spectrum disorders in patients with agenesis of the corpus callosum: the results of neuropsychological testing." Epilepsia and paroxyzmal conditions 10, no. 4 (March 1, 2019): 8–16. http://dx.doi.org/10.17749/2077-8333.2018.10.4.008-016.
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Aim. To assess the epileptic, cognitive and autistic manifestations of agenesis of the corpus callosum (ACC) in children.Material and methods. Clinical characteristics of 31 patients (median age 6.6±0.9 years) with ACC were studied. Group I included patients with combined ACC and epilepsy manifestations (n=12); among them, patients with atypical children’s autism (n=3), genetically confirmed Aicardi syndrome (n=3), microdeletion of the 3X long shoulder (n=1), and Miller-Dieker syndrome (n=1). Group II included patients with combined ACC without epilepsy (n=12); among them: children with autism caused by an organic brain disorder (n=2), genetically confirmed Mowat-Wilson syndrome (n=1), and microcephaly (n=1). In Group III, there were patients with isolated ACC without epilepsy (n=7). All patients underwent a neurologic examination, an assessment of the mental status, and a neuropsychological testing that included diagnostic neuropsychological tests according to Skvortsov et al. (2000), a neuropsychological survey and calculation of the lateral preference according to Semenovich et al. (2002), a test for the dominant hemisphere according to Yassman et al. (1999), as well as brain EEG and MRI.Results. In 75% of patients in Group I, symptomatic focal epilepsy was diagnosed (frontal-temporal – 4, frontal – 3, temporal – 2). Among other findings: 58% – complex partial seizures, 41.6% – complex partial seizures with secondary generalization, 16.7% – generalized seizures and their combination. In 16.7% of patients, there were atypical febrile seizures at the epilepsy debut with further transformation into symptomatic focal epilepsy of temporal localization. In 25% of patients in Group I, the neurogenetic Aicardi syndrome manifested in infantile (tonic) seizures up 10-20 attacks a day (symptomatic West syndrome). In 3 patients of Group I, atypical infantile autism was associated with symptomatic focal epilepsy (frontal-temporal – 2 and frontal – 1); 2 patients of Group II had infantile autism caused by an organic brain disease. In patients from Group I, the minimum value of the highest mental functions (HMF) score ranged from 25 to 51 (on average, Me =26.5) indicating severe cognitive disorders. In patients of Group III, the total HMF score varied from 77.5 to 87 (on average, Me =81) indicating mild cognitive disorders. Upon an inter-group comparison, patients with ACC associated with cerebral defects showed moderate to severe HMF disturbances (p < 0.002). The focal/multifocal epileptiform activity was recorded in 8 (67%) patients of Group I. In brain MRI scans of all patients of Group I, ACC was combined with various congenital development defects; in 3 (25%) patients of Group II, the structural lesions were dominated by congenital (hemispheric, arachnoid) cysts.Conclusion. Patients in Groups I and II have combined cerebral pathology with a predominance of combined congenital malformations, mainly associated with abnormal neuronal migration that negatively impacts the prognosis. In 75% of patients with combined ACC associated with temporal or frontal epilepsy, a highly severe cognitive deficiency was found; in 72% of cases of isolated ACC, mild cognitive disorders with a rather favorable prognosis were noted.
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O'Malley, Kieran D., and Jo Nanson. "Clinical Implications of a Link between Fetal Alcohol Spectrum Disorder and Attention-Deficit Hyperactivity Disorder." Canadian Journal of Psychiatry 47, no. 4 (May 2002): 349–54. http://dx.doi.org/10.1177/070674370204700405.
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Objective: To provide an overview of the animal and human research literature on the link between fetal alcohol spectrum disorder (FASD) and attention-deficit hyperactivity disorder (ADHD). Method: We conducted a comprehensive literature review that addressed the history of, and current research on, fetal alcohol syndrome (FAS) and FASD, as well as that on ADHD in children. Results: In animal and human research, there is emerging clinical, neuropsychological, and neurochemical evidence of a link between FASD and ADHD. Conclusions: The evidence of the link between these 2 conditions has implications for clinical management. The clinical quality of ADHD in children with FASD often differs from that of children without FASD. For children with FASD, ADHD is more likely to be the earlier-onset, inattention subtype, with comorbid developmental, psychiatric, and medical conditions. Children with FASD are commonly not mentally retarded but present complex learning disabilities, especially a mixed receptive-expressive language disorder with deficits in social cognition and communication (reminiscent of sensory aphasia and apraxia), working memory problems, and frequently, a mathematics disorder. Comorbid psychiatric conditions include anxiety, mood, conduct, or explosive disorders. As well, cardiac, renal, or skeletal problems are more likely to be present. Because these children have a disturbance in brain neurochemistry, or even brain structure (that is, in the corpus callosum), their response to standard psychostimulant medication can be quite unpredictable.
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Eichele, Heike, and Kerstin J. Plessen. "Neural Plasticity in Functional and Anatomical MRI Studies of Children with Tourette Syndrome." Behavioural Neurology 27, no. 1 (2013): 33–45. http://dx.doi.org/10.1155/2013/376590.
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Background:Tourette syndrome (TS) is a neuropsychiatric disorder with childhood onset characterized by chronic motor and vocal tics. The typical clinical course of an attenuation of symptoms during adolescence in parallel with the emerging self-regulatory control during development suggests that plastic processes may play an important role in the development of tic symptoms.Methods:We conducted a systematic search to identify existing imaging studies (both anatomical and functional magnetic resonance imaging [fMRI]) in young persons under the age of 19 years with TS.Results:The final search resulted in 13 original studies, which were reviewed with a focus on findings suggesting adaptive processes (using fMRI) and plasticity (using anatomical MRI). Differences in brain activation compared to healthy controls during tasks that require overriding of prepotent responses help to understand compensatory pathways in children with TS. Along with alterations in regions putatively representing the origin of tics, deviations in several other regions most likely represent an activity-dependent neural plasticity that help to modulate tic severity, such as the prefrontal cortex, but also in the corpus callosum and the limbic system.Discussion:Factors that potentially influence the development of adaptive changes in the brain of children with TS are age, comorbidity with other developmental disorders, medication use, IQ along with study-design or MRI techniques for acquisition, and analysis of data. The most prominent limitation of all studies is their cross-sectional design. Longitudinal studies extending to younger age groups and to children at risk for developing TS hopefully will confirm findings of neural plasticity in future investigations.
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Zhang, Siyu, Xinjian Ye, Guanghui Bai, Yuchuan Fu, Chuanwan Mao, Aiqin Wu, Xiaozheng Liu, and Zhihan Yan. "Alterations in Cortical Thickness and White Matter Integrity in Mild-to-Moderate Communicating Hydrocephalic School-Aged Children Measured by Whole-Brain Cortical Thickness Mapping and DTI." Neural Plasticity 2017 (2017): 1–6. http://dx.doi.org/10.1155/2017/5167973.
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Follow-up observation is required for mild-to-moderate hydrocephalic patients because of the potential damage to brain. However, effects of mild-to-moderate hydrocephalus on gray and white matter remain unclear in vivo. Using structural MRI and diffusion tensor imaging (DTI), current study compared the cortical thickness and white matter integrity between children with mild-to-moderate communicating hydrocephalus and healthy controls. The relationships between cortical changes and intelligence quota were also examined in patients. We found that cortical thickness in the left middle temporal and left rostral middle frontal gyrus was significantly lower in the hydrocephalus group compared with that of controls. Fractional anisotropy in the right corpus callosum body was significantly lower in the hydrocephalus group compared with that of controls. In addition, there was no association of cortical thinning or white matter fractional anisotropy with intelligence quota in either group. Thus, our findings provide clues to that mild-to-moderate hydrocephalus could lead to structural brain deficits especially in the middle temporal and middle frontal gyrus prior to the behavior changes.
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Shen, Chao-Yu, Jun-Cheng Weng, Jeng-Dau Tsai, Pen-Hua Su, Ming-Chih Chou, and Shu-Li Wang. "Prenatal Exposure to Endocrine-Disrupting Chemicals and Subsequent Brain Structure Changes Revealed by Voxel-Based Morphometry and Generalized Q-Sampling MRI." International Journal of Environmental Research and Public Health 18, no. 9 (April 30, 2021): 4798. http://dx.doi.org/10.3390/ijerph18094798.
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Previous studies have indicated that prenatal exposure to endocrine-disrupting chemicals (EDCs) can cause adverse neuropsychiatric disorders in children and adolescents. This study aimed to determine the association between the concentrations of prenatal EDCs and brain structure changes in teenagers by using MRI. We recruited 49 mother–child pairs during the third trimester of pregnancy, and collected and examined the concentration of EDCs—including phthalate esters, perfluorochemicals (PFCs), and heavy metals (lead, arsenic, cadmium, and mercury)—in maternal urine and/or serum. MRI voxel-based morphometry (VBM) and generalized q-sampling imaging (GQI) mapping—including generalized fractional anisotropy (GFA), normalized quantitative anisotropy (NQA), and the isotropic value of the orientation distribution function (ISO)—were obtained in teenagers 13–16 years of age in order to find the association between maternal EDC concentrations and possible brain structure alterations in the teenagers’ brains. We found that there are several specific vulnerable brain areas/structures associated with prenatal exposure to EDCs, including decreased focal brain volume, primarily in the frontal lobe; high frontoparietal lobe, temporooccipital lobe and cerebellum; and white matter structural alterations, which showed a negative association with GFA/NQA and a positive association with ISO, primarily in the corpus callosum, external and internal capsules, corona radiata, superior fronto-occipital fasciculus, and superior longitudinal fasciculus. Prenatal exposure to EDCs may be associated with specific brain structure alterations in teenagers.
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Drevets, Wayne C., Jonathan Savitz, and Michael Trimble. "The Subgenual Anterior Cingulate Cortex in Mood Disorders." CNS Spectrums 13, no. 8 (August 2008): 663–81. http://dx.doi.org/10.1017/s1092852900013754.
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ABSTRACTThe anterior cingulate cortex (ACC) ventral to the genu of the corpus callosum has been implicated in the modulation of emotional behavior on the basis of neuroimaging studies in humans and lesion analyses in experimental animals. In a combined positron emission tomography/magnetic resonance imaging study of mood disorders, we demonstrated that the mean gray matter volume of this “subgenual” ACC (sgACC) cortex is abnormally reduced in subjects with major depressive disorder (MDD) and bipolar disorder, irrespective of mood state. Neuropathological assessments of sgACC tissue acquired postmortem from subjects with MDD or bipolar disorder confirmed the decrement in gray matter volume, and revealed that this abnormality was associated with a reduction in glia, with no equivalent loss of neurons. In positron emission tomography studies, the metabolic activity was elevated in this region in the depressed relative to the remitted phases of the same MDD subjects, and effective antidepressant treatment was associated with a reduction in sgACC activity. Other laboratories replicated and extended these findings, and the clinical importance of this treatment effect was underscored by a study showing that deep brain stimulation of the sgACC ameliorates depressive symptoms in treatment-resistant MDD. This article discusses the functional significance of these findings within the context of the preclinical literature that implicates the putative homologue of this region in the regulation of emotional behavior and stress response. In experimental animals, this region participates in an extended “visceromotor network” of structures that modulates autonomic/neuroendocrine responses and neurotransmitter transmission during the neural processing of reward, fear, and stress. These data thus hold important implications for the development of neural models of depression that can account for the abnormal motivational, neuroendocrine, autonomic, and emotional manifestations evident in human mood disorders.
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Del Bigio, Marc R., and Eric M. Massicotte. "Protective effect of nimodipine on behavior and white matter of rats with hydrocephalus." Journal of Neurosurgery 94, no. 5 (May 2001): 788–94. http://dx.doi.org/10.3171/jns.2001.94.5.0788.
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Object. Hydrocephalus, a pathological dilation of the ventricles of the brain, causes damage to periventricular white matter, at least in part, through chronic ischemia. The authors tested the hypothesis that treatment with nimodipine, an L-type calcium channel-blocking agent with demonstrated efficacy in a range of cerebral ischemic disorders, would ameliorate the adverse effects of experimental hydrocephalus. Methods. Hydrocephalus was induced in 3-week-old rats by injection of kaolin into the cisterna magna. The rats were treated by continuous administration of nimodipine or control vehicle for 2 weeks, beginning 2 weeks after induction of hydrocephalus. During the treatment period, the animals underwent repeated tests of motor and cognitive behavior. At the end of the treatment period, the rat brains were analyzed by histopathological and biochemical means. Nimodipine treatment prevented the declines in motor and cognitive behavior that were observed in untreated control rats. During the treatment period, ventricular enlargement, determined by magnetic resonance imaging, was equal in the two groups, although the corpus callosum was thicker in the treated rats. Myelin content in white matter and synaptophysin content in gray matter, an indicator of synapses, did not differ. Conclusions. The protective effect of nimodipine is most likely based on improved blood flow, although prevention of calcium influx—mediated proteolytic processes in axons cannot be excluded. Adjunctive pharmacological therapy may be beneficial to patients with hydrocephalus.
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Moxon-Emre, Iska, Margot J. Taylor, Norman A. S. Farb, Adeoye A. Oyefiade, Michael D. Taylor, Eric Bouffet, Suzanne Laughlin, Jovanka Skocic, Cynthia B. de Medeiros, and Donald J. Mabbott. "Eye Movements and White Matter are Associated with Emotional Control in Children Treated for Brain Tumors." Journal of the International Neuropsychological Society 26, no. 10 (May 27, 2020): 978–92. http://dx.doi.org/10.1017/s1355617720000491.
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AbstractObjective:Children treated for brain tumors often experience social and emotional difficulties, including challenges with emotion regulation; our goal was to investigate the attention-related component processes of emotion regulation, using a novel eye-tracking measure, and to evaluate its relations with emotional functioning and white matter (WM) organization.Method:Fifty-four children participated in this study; 36 children treated for posterior fossa tumors, and 18 typically developing children. Participants completed two versions of an emotion regulation eye-tracking task, designed to differentiate between implicit (i.e., automatic) and explicit (i.e., voluntary) subprocesses. The Emotional Control scale from the Behavior Rating Inventory of Executive Function was used to evaluate emotional control in daily life, and WM organization was assessed with diffusion tensor imaging.Results:We found that emotional faces captured attention across all groups (F(1,51) = 32.18, p < .001, η2p = .39). However, unlike typically developing children, patients were unable to override the attentional capture of emotional faces when instructed to (emotional face-by-group interaction: F(2,51) = 5.58, p = .006, η2p = .18). Across all children, our eye-tracking measure of emotion regulation was modestly associated with the parent-report emotional control score (r = .29, p = .045), and in patients it was associated with WM microstructure in the body and splenium of the corpus callosum (all t > 3.03, all p < .05).Conclusions:Our findings suggest that an attention-related component process of emotion regulation is disrupted in children treated for brain tumors, and that it may relate to their emotional difficulties and WM organization. This work provides a foundation for future theoretical and mechanistic investigations of emotional difficulties in brain tumor survivors.
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Manevich-Mazor, Mirra, Alina Weissmann-Brenner, Omer Bar Yosef, Chen Hoffmann, Roei Mazor, Mariela Mosheva, Reuven Achiron, and Eldad Katorza. "Added Value of Fetal MRI in the Evaluation of Fetal Anomalies of the Corpus Callosum: A Retrospective Analysis of 78 Cases." Ultraschall in der Medizin - European Journal of Ultrasound 39, no. 05 (June 7, 2018): 513–25. http://dx.doi.org/10.1055/s-0043-113820.
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Abstract Objective To evaluate the added value of fetal MRI to ultrasound in detecting and specifying callosal anomalies, and its impact on clinical decision making. Methods Fetuses with a sonographic diagnosis of an anomalous corpus callosum (CC) who underwent a subsequent fetal brain MRI between 2010 and 2015 were retrospectively evaluated and classified according to the severity of the findings. The findings detected on ultrasound were compared to those detected on MRI. An analysis was performed to assess whether fetal MRI altered the group classification, and thus the management of these pregnancies. Results 78 women were recruited following sonographic diagnoses of either complete or partial callosal agenesis, short, thin or thick CC. Normal MRI studies were obtained inµ19 cases (24 %). Among these, all children available for follow-up received an adequate adaptive score in their Vineland II adaptive behavior scale assessment. Analysis of the concordance between US and MRI demonstrated a substantial level of agreement for complete callosal agenesis (kappa: 0.742), moderate agreement for thin CC (kappa: 0.418) and fair agreement for all other callosal anomalies. Comparison between US and MRI-based mild/severe findings classifications revealed that MRI contributed to a change in the management for 28 fetuses (35.9 %), mostly (25 fetuses, 32.1 %) in favor of pregnancy preservation. Conclusion Fetal MRI effectively detects callosal anomalies and enables satisfactory validation of the presence or absence of callosal anomalies identified by ultrasound and adds valuable data that improves clinical decision making.
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Danti, Federica Rachele, Serena Galosi, Marta Romani, Martino Montomoli, Keren J. Carss, F. Lucy Raymond, Elena Parrini, et al. "GNAO1 encephalopathy." Neurology Genetics 3, no. 2 (March 21, 2017): e143. http://dx.doi.org/10.1212/nxg.0000000000000143.
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Objective:To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease.Methods:We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques.Results:Patients first presented in early childhood (median age of presentation 10 months, range 0–48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy. Hyperkinetic movements were often exacerbated by specific triggers, such as voluntary movement, intercurrent illnesses, emotion, and high ambient temperature, leading to hospital admissions. Most patients were resistant to drug intervention, although tetrabenazine was effective in partially controlling dyskinesia for 2/7 patients. Emergency deep brain stimulation (DBS) was life saving in 1 patient, resulting in immediate clinical benefit with complete cessation of violent hyperkinetic movements. Five patients had well-controlled epilepsy and 1 had drug-resistant seizures. Structural brain abnormalities, including mild cerebral atrophy and corpus callosum dysgenesis, were evident in 5 patients. One patient had a diffuse astrocytoma (WHO grade II), surgically removed at age 16.Conclusions:Our findings support the causative role of GNAO1 mutations in an expanded spectrum of early-onset epilepsy and movement disorders, frequently exacerbated by specific triggers and at times associated with self-injurious behavior. Tetrabenazine and DBS were the most useful treatments for dyskinesia.
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Siffredi, Vanessa, Maria G. Preti, Valeria Kebets, Silvia Obertino, Richard J. Leventer, Alissandra McIlroy, Amanda G. Wood, Vicki Anderson, Megan M. Spencer-Smith, and Dimitri Van De Ville. "Structural Neuroplastic Responses Preserve Functional Connectivity and Neurobehavioural Outcomes in Children Born Without Corpus Callosum." Cerebral Cortex, October 27, 2020. http://dx.doi.org/10.1093/cercor/bhaa289.
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Abstract The corpus callosum is the largest white matter pathway in the brain connecting the two hemispheres. In the context of developmental absence (agenesis) of the corpus callosum (AgCC), a proposed candidate for neuroplastic response is strengthening of intrahemispheric pathways. To test this hypothesis, we assessed structural and functional connectivity in a uniquely large cohort of children with AgCC (n = 20) compared with typically developing controls (TDC, n = 29), and then examined associations with neurobehavioral outcomes using a multivariate data-driven approach (partial least squares correlation, PLSC). For structural connectivity, children with AgCC showed a significant increase in intrahemispheric connectivity in addition to a significant decrease in interhemispheric connectivity compared with TDC, in line with the aforementioned hypothesis. In contrast, for functional connectivity, children with AgCC and TDC showed a similar pattern of intrahemispheric and interhemispheric connectivity. In conclusion, we observed structural strengthening of intrahemispheric pathways in children born without corpus callosum, which seems to allow for functional connectivity comparable to a typically developing brain, and were relevant to explain neurobehavioral outcomes in this population. This neuroplasticity might be relevant to other disorders of axonal guidance, and developmental disorders in which corpus callosum alteration is observed.
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Guo, Yurui, Alpen Ortug, Rodney Sadberry, Arthur Rezayev, Jacob Levman, Tadashi Shiohama, and Emi Takahashi. "Symptom-Related Differential Neuroimaging Biomarkers in Children with Corpus Callosum Abnormalities." Cerebral Cortex, July 21, 2021. http://dx.doi.org/10.1093/cercor/bhab131.
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Abstract We aimed to identify symptom-related neuroimaging biomarkers for patients with dysgenesis of the corpus callosum (dCC) by summarizing neurological symptoms reported in clinical evaluations and correlating them with retrospectively collected structural/diffusion brain magnetic resonance imaging (MRI) measures from 39 patients/controls (mean age 8.08 ± 3.98). Most symptoms/disorders studied were associated with CC abnormalities. Total brain (TB) volume was related to language, cognition, muscle tone, and metabolic/endocrine abnormalities. Although white matter (WM) volume was not related to symptoms studied, gray matter (GM) volume was related to cognitive, behavioral, and metabolic/endocrine disorders. Right hemisphere (RH) cortical thickness (CT) was linked to language abnormalities, while left hemisphere (LH) CT was linked to epilepsy. While RH gyrification index (GI) was not related to any symptoms studied, LH GI was uniquely related to cognitive disorders. Between patients and controls, GM volume and LH/RH CT were significantly greater in dCC patients, while WM volume and LH/RH GI were significantly greater in controls. TB volume and diffusion indices for tissue microstructures did not show differences between the groups. In summary, our brain MRI-based measures successfully revealed differential links to many symptoms. Specifically, LH GI abnormality can be a predictor for dCC patients, which is uniquely associated with the patients' symptom. In addition, patients with CC abnormalities had normal TB volume and overall tissue microstructures, with potentially deteriorated mechanisms to expand/fold the brain, indicated by GI.
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Kühne, Fabienne, Wolf-Julian Neumann, Philip Hofmann, José Marques, Angela M. Kaindl, and Anna Tietze. "Assessment of myelination in infants and young children by T1 relaxation time measurements using the magnetization-prepared 2 rapid acquisition gradient echoes sequence." Pediatric Radiology, July 21, 2021. http://dx.doi.org/10.1007/s00247-021-05109-5.
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Abstract Background Axonal myelination is an important maturation process in the developing brain. Increasing myelin content correlates with the longitudinal relaxation rate (R1=1/T1) in magnetic resonance imaging (MRI). Objective By using magnetization-prepared 2 rapid acquisition gradient echoes (MP2RAGE) on a 3-T MRI system, we provide R1 values and myelination rates for infants and young children. Materials and methods Average R1 values in white and grey matter regions in 94 children without pathological MRI findings (age range: 3 months to 6 years) were measured and fitted by a saturating-exponential growth model. For comparison, R1 values of 36 children with different brain pathologies are presented. The findings were related to a qualitative evaluation using T2, magnetization-prepared rapid acquisition gradient echo (MP-RAGE) and MP2RAGE. Results R1 changes rapidly in the first 16 months of life, then much slower thereafter. R1 is highest in pre-myelinated structures in the youngest subjects, such as the posterior limb of the internal capsule (0.74–0.76±0.04 s−1) and lowest for the corpus callosum (0.37–0.44±0.03 s−1). The myelination rate is fastest in the corpus callosum and slowest in the deep grey matter. R1 is decreased in hypo- and dysmyelination disorders. Myelin maturation is clearly visible on MP2RAGE, especially in the first year of life. Conclusion MP2RAGE permits a quantitative R1 mapping method with an examination time of approximately 6 min. The age-dependent R1 values for children without MRI-identified brain pathologies are well described by a saturating-exponential function with time constants depending on the investigated brain region. This model can serve as a reference for this age group and to search for indications of subtle pathologies. Moreover, the MP2RAGE sequence can also be used for the qualitative assessment of myelinated structures.
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Izadi-Najafabadi, Sara, and Jill G. Zwicker. "White Matter Changes With Rehabilitation in Children With Developmental Coordination Disorder: A Randomized Controlled Trial." Frontiers in Human Neuroscience 15 (June 3, 2021). http://dx.doi.org/10.3389/fnhum.2021.673003.
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Background and Objectives: Children with developmental coordination disorder (DCD) have difficulty learning motor skills, which can affect their participation in activities of daily living and psychosocial well-being. Over 50% of children with DCD also have attention deficit hyperactivity disorder (ADHD), which further exacerbates their motor problems and impact on quality of life. A rehabilitation approach known as Cognitive Orientation to Occupational Performance uses problem-solving strategies to help children learn motor skills they wish to achieve. While this cognitive approach has been effective for children with DCD, few studies have examined the effectiveness of this approach for children with co-occurring ADHD. Further, the underlying mechanism and neural basis of this intervention are largely unknown.Methods: In this randomized waitlist-controlled trial, we used MRI to examine white matter microstructure after intervention in 8–12-year-old children with DCD (n = 28) and with DCD and co-occurring ADHD (n = 25). Children in both groups were randomized to either a treatment group or waitlist group at their first MRI. The treatment group began the intervention after their MRI scan and returned for a post-treatment scan at 3 months, and follow-up scan at 6 months; the waitlist group waited 3 months before their second MRI, received the intervention, and then had a post-treatment scan. Each child received intervention once weekly for 10 weeks. Diffusion tensor imaging was used to acquire white matter diffusion parameters and was analyzed using tract-based spatial statistics (TBSS).Results and Conclusion: Children with DCD showed significant improvement in white matter microstructure in the bilateral anterior thalamic radiation, bilateral sensorimotor tract, bilateral cingulum, fornix, splenium and body of corpus callosum, right inferior fronto-occipital fasciculus, and white matter pathways to bilateral inferior gyri, right middle frontal gyrus, frontal medial cortex, and left cuneus. We suggest that these rehabilitation-induced neural changes in children with DCD occurred in regions associated with attention, self-regulation, motor planning, and inter-hemispheric communication, which positively affected brain connectivity and motor function. In contrast, children with DCD and co-occurring ADHD did not show any brain changes following the intervention. Modifications to the treatment protocol might help address the attentional and self-regulatory needs of children with a dual diagnosis.Clinical Trial Registration: ClinicalTrials.gov ID: NCT02597751.
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Celen, Cemre, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K. Walker, Fei Chen, Shuyuan Zhang, et al. "Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment." eLife 6 (July 11, 2017). http://dx.doi.org/10.7554/elife.25730.
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Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al., 2013). We generated Arid1b heterozygous mice, which showed social behavior impairment, altered vocalization, anxiety-like behavior, neuroanatomical abnormalities, and growth impairment. In the brain, Arid1b haploinsufficiency resulted in changes in the expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders. A focus on reversible mechanisms identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormone-releasing hormone (GHRH) and Growth hormone (GH), underappreciated findings in ARID1B patients. Therapeutically, GH supplementation was able to correct growth retardation and muscle weakness. This model functionally validates the involvement of ARID1B in human disorders, and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeling.
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Ezan, Jerome, Maité M. Moreau, Tamrat M. Mamo, Miki Shimbo, Maureen Decroo, Melanie Richter, Ronan Peyroutou, et al. "Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity." Scientific Reports 11, no. 1 (April 27, 2021). http://dx.doi.org/10.1038/s41598-021-88147-1.
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AbstractNeurodevelopmental disorders arise from combined defects in processes including cell proliferation, differentiation, migration and commissure formation. The evolutionarily conserved tumor-suppressor protein Scribble (Scrib) serves as a nexus to transduce signals for the establishment of apicobasal and planar cell polarity during these processes. Human SCRIB gene mutations are associated with neural tube defects and this gene is located in the minimal critical region deleted in the rare Verheij syndrome. In this study, we generated brain-specific conditional cKO mouse mutants and assessed the impact of the Scrib deletion on brain morphogenesis and behavior. We showed that embryonic deletion of Scrib in the telencephalon leads to cortical thickness reduction (microcephaly) and partial corpus callosum and hippocampal commissure agenesis. We correlated these phenotypes with a disruption in various developmental mechanisms of corticogenesis including neurogenesis, neuronal migration and axonal connectivity. Finally, we show that Scrib cKO mice have psychomotor deficits such as locomotor activity impairment and memory alterations. Altogether, our results show that Scrib is essential for early brain development due to its role in several developmental cellular mechanisms that could underlie some of the deficits observed in complex neurodevelopmental pathologies.
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Tuscano, Antonella, Marisa Zoppo, Carlotta Canavese, Maurizio Cogoni, and Carlo Scolfaro. "Transient blindness associated with mild encephalitis/encephalopathy with a reversible splenial lesion (MERS): a case report and review of literature." Italian Journal of Pediatrics 46, no. 1 (October 12, 2020). http://dx.doi.org/10.1186/s13052-020-00918-0.
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Abstract Background Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinical-radiological syndrome that can be related to infectious and non-infectious conditions. The most prominent neurological symptoms are disturbance of consciousness, abnormal speech, delirious behavior, seizures, muscle weakness, ophthalmoplegia, facial nerve paralysis and headache. Here we report the case of a child with MERS presenting with the unusual symptom of bilateral transient blindness. Case presentation A 4-year-old female patient, with a history of fever, abdominal pain, loss of appetite and cough lasted for a few days, experienced 3 episodes of transient bilateral loss of vision with difficulty in walking. Her physical examination showed absence of focal neurological and meningeal irritation signs, although responsiveness was slightly impaired. The ophthalmologic evaluation, including a fundus oculi examination, was negative. The electroencephalogram showed slow activity in the temporo-occipital regions, more evident in the right hemisphere. A lumbar puncture was performed and cerebrospinal fluid analysis revealed normal glycorrhachia, cell counts, protein levels and IgG index. Magnetic resonance imaging of the brain showed a signal alteration in the splenium of the corpus callosum, without contrast enhancement. This finding was suggestive of a reversible cytotoxic lesion. Empiric antiviral treatment with acyclovir and intravenous dexamethasone was initiated. Polymerase chain reaction search for neurotropic viral nucleic acid sequences in the cerebrospinal fluid was negative, while a low number of HHV-6 DNA copies was detected in the blood. Electroencephalograms were repeated in the following days, showing a progressive normalization of the pattern. The child was discharged without symptoms after 10 days of treatment with oral corticosteroids. After 40 days, brain magnetic resonance imaging showed a complete normalization of the signal alteration in the splenium of the corpus callosum. Conclusion Transient blindness was reported as an initial symptom of MERS in a few children. To date, there is no evidence of effective treatment methods. Nonetheless, MERS diagnosis provides pediatricians with valuable prognostic information in order to reassure patients and their families about the good outcome of this disease.
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Piro, Ettore, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, and Giovanni Corsello. "Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient." Italian Journal of Pediatrics 46, no. 1 (September 24, 2020). http://dx.doi.org/10.1186/s13052-020-00903-7.
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Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types of Leigh syndrome, with a carrier frequency up to 1:23 and an incidence of 1:2063 in the Saguenay-Lac-St Jean region of Quebec. Recently, LSFC has also been reported outside the French-Canadian population. Patient presentation We report a male Italian (Sicilian) child, born preterm at 28 + 6/7 weeks gestation, carrying a novel LRPPRC compound heterozygous mutation, with facial dysmorphisms, neonatal hypotonia, non-epileptic paroxysmal motor phenomena, and absent sucking-swallowing-breathing coordination requiring, at 4.5 months, a percutaneous endoscopic gastrostomy tube placement. At 5 months brain Magnetic Resonance Imaging showed diffuse cortical atrophy, hypoplasia of corpus callosum, cerebellar vermis hypoplasia, and unfolded hippocampi. Both auditory and visual evoked potentials were pathological. In the following months Video EEG confirmed the persistence of sporadic non epileptic motor phenomena. No episode of metabolic decompensation, acidosis or ketosis, frequently observed in LSFC has been reported. Actually, aged 14 months corrected age for prematurity, the child shows a severe global developmental delay. Metabolic investigations and array Comparative Genomic Hybridization (aCGH) results were normal. Whole-genome sequencing (WGS) found a compound heterozygous mutation in the LRPPRC gene, c.1921–7A > G and c.2056A > G (p.Ile686Val), splicing-site and missense variants, inherited from the mother and the father, respectively. Conclusions We first characterized the clinical and molecular features of a novel LRPPRC variant in a male Sicilian child with early onset encephalopathy and psychomotor impairment. Our patient showed a phenotype characterized by a severe neurodevelopmental delay and absence of metabolic decompensation attributable to a probable residual enzymatic activity. LRPPRC is a rare cause of metabolic encephalopathy outside of Québec. Our patient adds to and broaden the spectrum of LSFC phenotypes. WGS analysis is a pivotal genetic test and should be performed in infants and children with hypotonia and developmental delay in whom metabolic investigations and aCGH are normal.